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Year : 2019  |  Volume : 20  |  Issue : 1  |  Page : 71-74

Zinser–Engmann–Cole syndrome: Two case report

Department of Dermatology, K R Hospital, Mysore Medical College and Research Institute, Mysore, Karnataka, India

Date of Web Publication14-Dec-2018

Correspondence Address:
Dr. Sathish Shankar
Department of Dermatology, Room No. 14, 1st Floor, OPD Block, K R Hospital, Irwin Road, Mysore - 570 001, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_41_18

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We report two cases of dyskeratosis congenita. Case 1: An 11-year-old male child presented to us with severe anemia and pancytopenia resulting in cardiac failure, in addition to the classical clinical triad including skin atrophy with mottled pigmentation, nail dystrophy, and oral leukoplakia; he also had palmoplantar keratoderma, adermatoglyphia, mucosal involvement resulting in epiphora, and urethral stricture. Urethral involvement is usually a rare presentation. Case 2: A 5-year-old female child presented with mottled pigmentation, oral leukoplakia, palmoplantar keratoderma with adermatoglyphia, delayed milestones, mental retardation, repeated skin and pulmonary infections, and dental caries along with anemia. In addition, the child had meningocoele which is so far not reported. It is very important to have high index of suspicion about cutaneous markers of dyskeratosis congenita, and its early diagnosis helps to prevent life-threatening systemic complications and to give quality of life.

Keywords: Dyskeratosis congenita, leukoplakia, pancytopenia

How to cite this article:
Hanumaiah B, Shankar S, Lingaiah NS. Zinser–Engmann–Cole syndrome: Two case report. Indian J Paediatr Dermatol 2019;20:71-4

How to cite this URL:
Hanumaiah B, Shankar S, Lingaiah NS. Zinser–Engmann–Cole syndrome: Two case report. Indian J Paediatr Dermatol [serial online] 2019 [cited 2020 Sep 19];20:71-4. Available from: http://www.ijpd.in/text.asp?2019/20/1/71/247552

  Introduction Top

Zinsser–Cole–Engmann syndrome or dyskeratosis congenita is a rare inherited disorder characterized by atrophy, mottled pigmentation of the skin, nail dystrophy, leukoplakia, bone marrow failure, and predisposition to malignancy. It is associated with DNA instability, inherited as X-linked recessive, though autosomal dominant inheritance has also been reported.[1]

  Case Reports Top

Case 1

An 11-year-old male, born to a nonconsanguineous couple, presented with severe anemia in cardiac failure with hyperpigmentation of skin over extremities, trunk, and face for 2 years. The pigmentation initially started over both upper and lower extremities and within 2 years extended to involve trunk and face, and the nail changes appeared, gradually affecting all the 20 nails. The patient had burning sensation in the mouth and excessive watering from the left eye for 1 year. There was also history of difficulty in micturition 6 months back, for which he had undergone surgery. The patient had generalized weakness, easy fatigability, and palpitation. There was no family history of similar disorder. General physical examination revealed severe pallor and epiphora of the left eye [Figure 1].
Figure 1: Picture showing epiphora of the left eye

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Cutaneous examination revealed fine reticulate, gray-brown pigmentation with spots of hypopigmentation in between, with atrophy of skin over the trunk, upper and lower extremities, groin, axillae, and face predominantly over the malar area and earlobes [Figure 2]. Oral cavity showed whitish plaque over dorsum and lateral aspect of the tongue with blackish discoloration at the center suggestive of leukoplakia [Figure 3]. Nail examination revealed dystrophy of all 20 nails with thinning, tapering, pterygium, and complete loss of nail plate in few fingers [Figure 4]a. Palmoplantar hyperkeratosis was present in both palms and soles, and the absence of dermatoglyphics was also observed [Figure 4]b. Systemic examination revealed soft systolic murmur in mitral area.
Figure 2: Picture showing mottled pigmentation over the face

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Figure 3: Picture showing oral leukoplakia

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Figure 4: (a) Showing nail dystrophy, (b) showing palmoplantar keratoderma with adermatoglyphia

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Complete hemogram showed pancytopenia. Ultrasound examination of the abdomen was normal. Fundus examination of the eyes revealed hemorrhage in inferior disc margin in the left eye. Skin biopsy showed thinning of epidermis and melanophages in the dermis.

Case 2

A 5-year-old female child, born to nonconsanguineous couple, presented with blackish discoloration of skin over trunk and extremities, started at 1 year and gradually progressed to involve trunk, face, and upper and lower extremities. Blackish discoloration of the tongue with burning sensation was present for 1 year. Recurrent dental caries with malaligned teeth were present. There was a swelling over occipital region of scalp since birth and diagnosed as meningocoele. Recurrent episodes of upper respiratory tract and skin infections were present since birth. She also had delayed developmental milestones and was mentally subnormal.

On examination, pallor was present. Mottled pigmentation of skin was present predominantly over the neck, upper chest, and upper and lower extremities [Figure 5]. Leukoplakia was present on dorsum of the tongue [Figure 6]a. Dental caries were present in the upper central and lateral incisors [Figure 6]b. Palms showed thickened skin with absence of skin creases [Figure 7]a. Multiple pyodermas were present on the extremities [Figure 7]b. A solitary cystic swelling measuring 2 cm × 2 cm present over occipital region of scalp was diagnosed as meningocele [Figure 8]. Fingernails showed clubbing. The child had low intelligent quotient and was not able to talk.
Figure 5: Picture showing mottled pigmentation over the upper limbs, neck, and upper chest

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Figure 6: (a) Showing oral leukoplakia, (b) showing dental caries

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Figure 7: (a) Showing plamar keratoderma with adermatoglyphia, (b) showing pyoderma

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Figure 8: Picture showing meningocoele over the occipital area

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Complete blood count showed pancytopenia, and other investigations were normal.

Genetic analyses could not be done for both cases. Patients were referred to the pediatric department for further management.

  Discussion Top

Zinsser–Cole–Engmann syndrome or dyskeratosis congenita is a rare disorder first described by Zinsser in 1906 and later by Cole et al. and Engmann.[2],[3],[4]

Dyskeratosis congenita is usually inherited in an X-linked recessive fashion, although autosomal dominant inheritance has also been reported.[1],[5]

Over 200 cases of X-linked recessive form have been reported in the literature, and 90% of them occurred in male patients.[6] A study revealed that among 92 different families across 20 countries, in 16 families, there were one or more females affected, which explains the autosomal inheritance of the disease.[7] Recently, it was reported in a Nigerian boy without any family history, which explains that the disease can also be acquired sporadically.[8]

Dyskeratosis congenita is caused by missense mutations in the DKC1 gene, located at Xq28, which encodes the protein dyskerin, which interacts with the enzyme telomerase. Its dysfunction leads to chromosome instability which plays a role in tumorigenesis.[6]

The essential features of the syndrome are triad of atrophy and mottled pigmentation of the skin, with some areas showing poikilodermatous changes, nail dystrophy, and oral leukoplakia. The palms and soles may be thickened and hyperhidrotic and may form bullae with trauma.[1],[6] The nail changes are usually the first to appear between 5 and 13 years, and include longitudinal ridging, splitting, pterygium, and complete loss of nail plate in some patients.[1],[6]

The premalignant oral leukoplakia occurs in early adolescence, which is a pathognomonic feature, seen in 80% of patients and is associated with risk of malignancy.[9]

Similar changes in the tarsal conjunctiva may obliterate the lacrimal puncta resulting in excessive lacrimation, anorectal, or urethral leukoplakia which may produce stenosis as seen in our case 1. The teeth tend to be defective and irregularly implanted, and periodontal disease and early caries are usual.[1],[6]

Bone marrow failure presenting as pancytopenia occurs in 50%–90% of patients and presents in the second or third decade. Malignancies tend to develop during the third or fourth decade such as squamous cell carcinoma of mouth from area of leukoplakia, anus, cervix, vagina, esophagus, and atrophic skin. Myelodysplasia and acute myelogenous leukemia, Hodgkin's disease, and pancreatic adenocarcinoma are reported.[1],[6]

  Conclusion Top

In our cases, in addition to the known classical triad that is skin pigmentation, nail dystrophy, and oral leukoplakia, one child had severe anemia and pancytopenia resulting in cardiac failure, which is a common cause of mortality. Urethral stricture which is not so usual presentation, was seen in our case. A high index of suspicion and early recognition and management of blood dyscrasias, malignancies, and recurrent infections in dyskeratosis congenita are important to reduce the morbidity and mortality. The classical clinical triad and other cutaneous markers help in its early diagnosis even before the child could develop life-threatening systemic complications and hence improve the quality of life.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Harper JI, Trembath RC. Genetics and genodermatoses. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Textbook of Dermatology. 7th ed. London: Blackwell; 2004.  Back to cited text no. 1
Zinsser F. Atrophia cutis reticularis cum pigmentione, dystrophia unguium et leukokeratosis oris. Ikonogr Dermatol 1906;5:219-23.  Back to cited text no. 2
Cole HN, Rauschkolb JC, Toomey J. Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris. Arch Dermatol Syhphilol 1930;21:71-95.  Back to cited text no. 3
Engmann ME. A unique case of reticular pigmentation of the skin with atrophy. Arch Dermatol Syphilol 1926;13:685-7.  Back to cited text no. 4
Rema TD, Sarojini PA, Mathew B. Dyskeratosis congenita report of a family. Indian J Dermatol Venereol Leprol 1992;58:195-7.  Back to cited text no. 5
  [Full text]  
Trout CR, Levine N, Chang MW. Disorders of hyperpigmentation. In: Bolognia JL, Jorrizo JL, Rapini RP, editors. Dermatology. 1st ed. London: Mosby; 2003. p. 997-9.  Back to cited text no. 6
Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000;110:768-79.  Back to cited text no. 7
Ibrahim A, Halima K. Dyskeratosis congenita in a Nigerian boy. Niger Med J 2014;55:173-5.  Back to cited text no. 8
[PUBMED]  [Full text]  
Karunakaran A, Ravindran R, Arshad M, Ram MK, Laxmi MK. Dyskeratosis congenita: A report of two cases. Case Rep Dent 2013;2013:845125.  Back to cited text no. 9


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]


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